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Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072. Epub 2021 Nov 15.
Clin Genet. 2022.
PMID: 34664255
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.
Moreira DP, Suzuki AM, Silva ALTE, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari MFR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann KS, de Lima MA, Nader HB, Sertié AL, Passos-Bueno MR.
Moreira DP, et al. Among authors: lourenco ncv.
Front Cell Neurosci. 2022 Jan 13;15:803302. doi: 10.3389/fncel.2021.803302. eCollection 2021.
Front Cell Neurosci. 2022.
PMID: 35095425
Free PMC article.
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Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC.
Bocángel MAP, et al. Among authors: lourenco ncv.
Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31.
Eur J Med Genet. 2018.
PMID: 29407415
Free article.
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A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread.
Kobayashi GS, Brito LA, Moreira DP, Suzuki AM, Hsia GSP, Pimentel LF, de Paiva APB, Dias CR, Lourenço NCV, Oliveira BA, Manuli ER, Corral MA, Cavaçana N, Mitne-Neto M, Sales MM, Dell' Aquila LP, Filho AR, Parrillo EF, Mendes-Corrêa MC, Sabino EC, Costa SF, Leal FE, Sgro GG, Farah CS, Zatz M, Passos-Bueno MR.
Kobayashi GS, et al. Among authors: lourenco ncv.
Diagnostics (Basel). 2021 Aug 3;11(8):1400. doi: 10.3390/diagnostics11081400.
Diagnostics (Basel). 2021.
PMID: 34441334
Free PMC article.
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Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.
Romanelli Tavares VL, Monfardini F, Lourenço NCV, da Rocha KM, Weinmann K, Pavanello R, Zatz M.
Romanelli Tavares VL, et al. Among authors: lourenco ncv.
Int J Neonatal Screen. 2021 Aug 11;7(3):53. doi: 10.3390/ijns7030053.
Int J Neonatal Screen. 2021.
PMID: 34449526
Free PMC article.
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Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina.
Barboni MT, Martins CM, Nagy BV, Tsai T, Damico FM, da Costa MF, de Cassia R, Pavanello M, Lourenço NC, de Cerqueira AM, Zatz M, Kremers J, Ventura DF.
Barboni MT, et al. Among authors: lourenco nc.
Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3581-7. doi: 10.1167/iovs.16-19287.
Invest Ophthalmol Vis Sci. 2016.
PMID: 27388051
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